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Protein

Alpha-mannosidase 2C1

Gene

MAN2C1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm.1 Publication

Caution

Catalytic activityi

Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.1 Publication

Cofactori

Co2+1 Publication

Enzyme regulationi

Strongly inhibited by swainsonine. Also inhibited to a lesser extent by deoxymannojirimycin (DMM).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi260CobaltCurated1
Metal bindingi262CobaltCurated1
Active sitei372NucleophileBy similarity1
Metal bindingi372CobaltCurated1
Metal bindingi577CobaltCurated1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase
LigandCobalt, Metal-binding

Enzyme and pathway databases

BRENDAi3.2.1.24 2681
ReactomeiR-HSA-8853383 Lysosomal oligosaccharide catabolism

Protein family/group databases

CAZyiGH38 Glycoside Hydrolase Family 38

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-mannosidase 2C1 (EC:3.2.1.241 Publication)
Alternative name(s):
Alpha mannosidase 6A8B
Alpha-D-mannoside mannohydrolase
Mannosidase alpha class 2C member 1
Gene namesi
Name:MAN2C1
Synonyms:MANA, MANA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140400.14
HGNCiHGNC:6827 MAN2C1
MIMi154580 gene
neXtProtiNX_Q9NTJ4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi4123
OpenTargetsiENSG00000140400
PharmGKBiPA30576

Polymorphism and mutation databases

BioMutaiMAN2C1
DMDMi27923805

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002069071 – 1040Alpha-mannosidase 2C1Add BLAST1040

Proteomic databases

MaxQBiQ9NTJ4
PaxDbiQ9NTJ4
PeptideAtlasiQ9NTJ4
PRIDEiQ9NTJ4

PTM databases

iPTMnetiQ9NTJ4
PhosphoSitePlusiQ9NTJ4

Expressioni

Gene expression databases

BgeeiENSG00000140400
CleanExiHS_MAN2C1
ExpressionAtlasiQ9NTJ4 baseline and differential
GenevisibleiQ9NTJ4 HS

Organism-specific databases

HPAiHPA040627
HPA067407

Interactioni

Protein-protein interaction databases

BioGridi11029614 interactors.
IntActiQ9NTJ4 5 interactors.
STRINGi9606.ENSP00000267978

Structurei

3D structure databases

ProteinModelPortaliQ9NTJ4
SMRiQ9NTJ4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 38 family.Curated

Phylogenomic databases

eggNOGiKOG4342 Eukaryota
COG0383 LUCA
GeneTreeiENSGT00390000006338
HOGENOMiHOG000048425
HOVERGENiHBG055567
InParanoidiQ9NTJ4
KOiK01191
OMAiGQYWDAW
OrthoDBiEOG091G016H
PhylomeDBiQ9NTJ4
TreeFamiTF300335

Family and domain databases

Gene3Di1.20.1270.501 hit
3.20.110.101 hit
InterProiView protein in InterPro
IPR011013 Gal_mutarotase_sf_dom
IPR011330 Glyco_hydro/deAcase_b/a-brl
IPR011682 Glyco_hydro_38_C
IPR015341 Glyco_hydro_38_cen
IPR037094 Glyco_hydro_38_cen_sf
IPR000602 Glyco_hydro_38_N
IPR027291 Glyco_hydro_38_N_sf
IPR028995 Glyco_hydro_57/38_cen_sf
PfamiView protein in Pfam
PF09261 Alpha-mann_mid, 1 hit
PF01074 Glyco_hydro_38, 1 hit
PF07748 Glyco_hydro_38C, 1 hit
SMARTiView protein in SMART
SM00872 Alpha-mann_mid, 1 hit
SUPFAMiSSF74650 SSF74650, 1 hit
SSF88688 SSF88688, 1 hit
SSF88713 SSF88713, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NTJ4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT
60 70 80 90 100
PERLPYQEAV QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC
110 120 130 140 150
WESDGEGLVW RDGEPVQGLT KEGEKTSYVL TDRLGERDPR SLTLYVEVAC
160 170 180 190 200
NGLLGAGKGS MIAAPDPEKM FQLSRAELAV FHRDVHMLLV DLELLLGIAK
210 220 230 240 250
GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR FFGQHGGESQ
260 270 280 290 300
HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA
310 320 330 340 350
QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF
360 370 380 390 400
LQGQNFFLQE FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN
410 420 430 440 450
LVNSFPHHTF FWEGLDGSRV LVHFPPGDSY GMQGSVEEVL KTVANNRDKG
460 470 480 490 500
RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS NTDGLPRVQL SSPRQLFSAL
510 520 530 540 550
ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL HDVELLSSLA
560 570 580 590 600
LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR
610 620 630 640 650
SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA
660 670 680 690 700
LVTVPSMGYA PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP
710 720 730 740 750
TGRLTSLVLV ASGREAIAEG AVGNQFVLFD DVPLYWDAWD VMDYHLETRK
760 770 780 790 800
PVLGQAGTLA VGTEGGLRGS AWFLLQISPN SRLSQEVVLD VGCPYVRFHT
810 820 830 840 850
EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN TSWDWARFEV
860 870 880 890 900
WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG
910 920 930 940 950
RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV
960 970 980 990 1000
SSPAVVLETV KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC
1010 1020 1030 1040
DLLERPDPAG HLTLRDNRLK LTFSPFQVLS LLLVLQPPPH
Length:1,040
Mass (Da):115,835
Last modified:October 1, 2000 - v1
Checksum:i2B40AE6E03AC1E3C
GO
Isoform 2 (identifier: Q9NTJ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     913-935: Missing.

Note: No experimental confirmation available.
Show »
Length:1,017
Mass (Da):113,461
Checksum:i90AFFF46F25F5294
GO
Isoform 3 (identifier: Q9NTJ4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     201-299: Missing.

Note: No experimental confirmation available.
Show »
Length:941
Mass (Da):104,690
Checksum:iF2AB8C70108FB535
GO
Isoform 4 (identifier: Q9NTJ4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     650-682: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSA...DSASRPPPTK

Note: Gene prediction based on EST data.
Show »
Length:1,057
Mass (Da):117,187
Checksum:iD2F034EDEC3EB019
GO

Sequence cautioni

The sequence AAC00190 differs from that shown. Reason: Frameshift at position 1013.Curated
The sequence AAC00568 differs from that shown. Reason: Frameshift at position 1013.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6A → F in AAC00190 (Ref. 1) Curated1
Sequence conflicti14L → F in AAC00190 (Ref. 1) Curated1
Sequence conflicti24L → I in AAC00190 (Ref. 1) Curated1
Sequence conflicti170M → I in AAC00190 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069180323R → C1 PublicationCorresponds to variant dbSNP:rs200595616Ensembl.1
Natural variantiVAR_061192818R → H. Corresponds to variant dbSNP:rs58557444Ensembl.1
Natural variantiVAR_049211950V → M. Corresponds to variant dbSNP:rs3803467Ensembl.1
Natural variantiVAR_021914960V → I1 PublicationCorresponds to variant dbSNP:rs3803466Ensembl.1
Natural variantiVAR_049212975R → K. Corresponds to variant dbSNP:rs5745934Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_046395201 – 299Missing in isoform 3. 1 PublicationAdd BLAST99
Alternative sequenceiVSP_046895650 – 682ALVTV…FVVQE → GLTPSPGDSAQHGLCSCSSP HLTAAPAAPAACVRSARAPT DSASRPPPTK in isoform 4. CuratedAdd BLAST33
Alternative sequenceiVSP_046375913 – 935Missing in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044414 mRNA Translation: AAC00190.2 Frameshift.
AL136876 mRNA Translation: CAB66810.1
AK225145 mRNA No translation available.
AC068338 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99253.1
BC050550 mRNA Translation: AAH50550.1
BC080191 mRNA Translation: AAH80191.1
U37248 mRNA Translation: AAC00568.1 Sequence problems.
CCDSiCCDS32298.1 [Q9NTJ4-1]
CCDS58389.1 [Q9NTJ4-3]
CCDS58390.1 [Q9NTJ4-2]
CCDS58391.1 [Q9NTJ4-4]
PIRiT46931
RefSeqiNP_001243423.1, NM_001256494.1 [Q9NTJ4-4]
NP_001243424.1, NM_001256495.1 [Q9NTJ4-2]
NP_001243425.1, NM_001256496.1 [Q9NTJ4-3]
NP_006706.2, NM_006715.3 [Q9NTJ4-1]
UniGeneiHs.26232
Hs.598731

Genome annotation databases

EnsembliENST00000267978; ENSP00000267978; ENSG00000140400 [Q9NTJ4-1]
ENST00000563622; ENSP00000454589; ENSG00000140400 [Q9NTJ4-3]
ENST00000565683; ENSP00000457788; ENSG00000140400 [Q9NTJ4-4]
ENST00000569482; ENSP00000455998; ENSG00000140400 [Q9NTJ4-2]
GeneIDi4123
KEGGihsa:4123
UCSCiuc002baf.5 human [Q9NTJ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMA2C1_HUMAN
AccessioniPrimary (citable) accession number: Q9NTJ4
Secondary accession number(s): H3BMX2
, H3BQY8, H3BUT6, Q13358, Q68EM8, Q9UL64
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: October 1, 2000
Last modified: April 25, 2018
This is version 155 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome